Canonical Allele Identifier: CA528685122

Gene: FLVCR1

Linked Data

• dbSNP Id: rs1454757519
• gnomAD v2: 1-213057077-CA-C
• gnomAD v3: 1-212883735-CA-C
• gnomAD v4: 1-212883735-CA-C
• MyVariant Identifiers: chr1:g.213057078del (hg19) ; chr1:g.212883736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883736del , CM000663.2:g.212883736del	GRCh38
NC_000001.10:g.213057078del , CM000663.1:g.213057078del	GRCh37
NC_000001.9:g.211123701del	NCBI36
NG_028131.1:g.30482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1092+298del MANE Select	ENSP00000355938.4:n.1092+298del
ENST00000366971.8:c.1092+298del	ENSP00000355938.4:n.1092+298del
ENST00000419102.1:c.488+298del
ENST00000474693.1:n.317+298del
ENST00000483790.1:n.30+298del
NM_014053.3:c.1092+298del	NP_054772.1:n.1092+298del
XM_011509446.1:c.1092+298del	XP_011507748.1:n.1092+298del
XR_247024.1:n.1266+298del
XR_426771.1:n.1393+298del
XM_011509446.3:c.1092+298del	XP_011507748.1:n.1092+298del
XR_247024.3:n.1266+298del
NM_014053.4:c.1092+298del MANE Select	NP_054772.1:n.1092+298del